Living with X-linked erythropoietic protoporphyria
A rare inherited condition, from early childhood, in which light, especially sunlight, causes painful skin reactions.
Understanding X-linked erythropoietic protoporphyria
Symptoms usually start in early infancy or childhood. Males have tingling, burning, and itching of the skin within minutes of light, with swelling and redness. Pain can last hours or days. Some people have liver problems and gallstones. In females, symptoms range from severe to none.
Signs & symptoms
GARD doesn't list a common-symptom list, but its summary describes these:
- Skin tingling, burning, and itching in light
- Skin swelling and redness
- Pain lasting hours or days after light
- Liver problems
- Gallstones
- Iron deficiency anemia
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, kidney specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ALAS2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
American Porphyria Foundation and United Porphyrias Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: American Porphyria Foundation, United Porphyrias Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with American Porphyria Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
X-linked erythropoietic protoporphyria is caused by changes in the ALAS2 gene and follows X-linked inheritance.
Also known as: alas2-related erythropoietic protoporphyria; erythrohepatic protoporphyria, x-linked; erythropoietic protoporphyria, x-linked; erythropoietic protoporphyria, x-linked dominant; x-linked dominant erythropoietic protoporphyria; x-linked dominant protoporphyria
Patient organizations
- American Porphyria FoundationX-linked erythropoietic protoporphyria · United States
- United Porphyrias AssociationX-linked erythropoietic protoporphyria · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked erythropoietic protoporphyria.
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